Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021843 (bowel obstruction)
 9,927 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Twenty cases of cystic adenomatoid malformation of the lung were observed: 2 had died in utero; the diagnosis was made at birth in 13 infants of which 3 were premature. A Bochdalek's hernia had been diagnosed before birth in 2 cases by echo-tomography. The correct antenatal diagnosis had been made in 2 cases. Two infants had no symptoms, 3 were dyspneic, 8 were in respiratory distress and had to be intubated and ventilated. Two had a prune belly syndrome. Eight infants had a thoracotomy during their first week of life. Pulmonary resections concerning those 13 patients comprised 10 lower lobectomies, 1 of which was associated with a lingulectomy, and 2 upper lobectomies, 1 of which was associated with a middle lobe resection. Five patients were diagnosed and operated upon between 10 months and 8 years of age; 4 had recurrent bronchitis and 1 was diagnosed during the treatment of a gastroenteritis. They had 3 lower and 2 upper lobectomies. Recovery was uneventful in all patients except for 1 who was reoperated upon for intestinal obstruction. Antenatal diagnosis of cystic adenomatoid malformation should become standard. The malformation may be mistaken for a pulmonary sequestration or bronchogenic cyst. Differential diagnosis of a congenital hernia is important.
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PMID:Congenital cystic adenomatoid malformation of the lung. 222 14

Since 1976, 23 children with bladder or cloacal exstrophy, meningomyelocele, sacral agenesis, the prune belly syndrome and noncompliant bladders associated with urethral valves or prior diversion underwent augmentation cystoplasty. Of these procedures 7 were combined with some type of urinary undiversion. Bowel segments used for augmentation included ileum alone in 10 patients, ileocecal segments in 4, a sigmoid patch in 8 and a hindgut patch in 1. An artificial urinary sphincter was placed at the time of bladder augmentation in 3 patients. There were no urinary fistulas or cases of urinary rediversion. Two patients required oral alkalizing agents as a result of persistent systemic acidosis. One patient required reoperation twice for ureteral obstruction, 1 had removal of the sphincter device secondary to erosion, 1 required reinforcement of the ileocecal valve owing to persistent reflux and 1 required reoperation for small bowel obstruction. Other complications included a superficial wound infection and 5 urinary tract infections, all of which were managed easily. Three patients were voiding and continent, 18 were dry with intermittent self-catheterization, 1 had giggle incontinence and 1 remained incontinent after sphincter removal. Augmentation cystoplasty appears to offer a reliable alternative to urinary diversion in the reconstructive management of children with small capacity bladders.
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PMID:Pediatric applications of augmentation cystoplasty: the Johns Hopkins experience. 373 10

Presented are 2 patients with abnormal craniofacial region, limbs, and abdomen, features that may be consistent with Pfeiffer syndrome, type 3. Both patients had bicoronal and bisphenoidal synostosis, extreme exophthalmic midface hypoplasia, and hydrocephalus. The limbs had a fixed flexion deformity of the elbows with broad thumbs which were radiopalmarly deviated; the toes were broad with a varus deformity and syndactyly toes 2-5. Both patients developed bowel obstruction secondary to midgut malrotation, and one of the patients had prune belly syndrome. Review of the literature disclosed an additional patient who, in retrospect, had Pfeiffer syndrome type 3 and midgut malrotation. These patients suggest that intestinal malrotation with or without prune belly syndrome may be a common component of this entity.
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PMID:Craniofacial, limb, and abdominal anomalies in a distinct syndrome: relation to the spectrum of Pfeiffer syndrome type 3. 805 32

This case describes a prune-belly syndrome patient who had a kidney transplantation and was diagnosed with Encapsulating Peritoneal Sclerosis (EPS), a rare but potentially fatal condition, mostly associated with Peritoneal Dialysis (PD). The definition of EPS is based on the clinical findings linked to bowel obstruction and on the demonstration of peritoneal thickening. Surgical treatment is the only established basic treatment for the condition. Prune-belly syndrome is characterized by the triad of deficient abdominal musculature, urinary tract abnormality and cryptorchidism. Because it is often associated with end-stage renal disease, PD is essential in the treatment of patients with prune-belly syndrome. The aetiology of EPS follows a 'two-hit theory': the first 'hit' is peritoneal deterioration, caused by long-time exposure to PD. This causes peritoneal disruption which predisposes the patient to a second hit. In our patient, PD discontinuation and renal transplantation are possible 'second hits' that triggered the development of EPS. This case of prune-belly syndrome has all the necessary elements for the development of EPS, and we felt we should report it as the peroperative diagnosis was unexpected.
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PMID:Encapsulating peritoneal sclerosis in a peritoneal dialysis patient with prune-belly syndrome: a case report. 2069 May 23

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a multisystemic disorder in which impaired intestinal motor activity causes recurrent symptoms of intestinal obstruction in the absence of mechanical occlusion, associated with bladder distention without distal obstruction of the urinary tract. MMIHS and prune belly syndrome may overlap in most of the clinical features and discrimination of these two entities is important because the prognosis, management and consulting with parents are completely different. MMIHS outcome is very poor and in this article we present two neonates with MMIHS that both died in a few days.
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PMID:Megacystis microcolon intestinal hypoperistalsis syndrome. 2372